| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122261924G>A | CA119469 | CASR | c.889G>A (p.Glu297Lys) c.406G>A (p.Glu136Lys) c.301G>A (p.Glu101Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261924G>C | CA354151569 | CASR | c.889G>C (p.Glu297Gln) c.406G>C (p.Glu136Gln) c.301G>C (p.Glu101Gln) | ClinVar dbSNP |
| 3 | g.122261924G= | CA1397873202 | CASR | c.889G= (p.Glu297=) c.406G= (p.Glu136=) c.301G= (p.Glu101=) | dbSNP |